河南省罕见疾病的现况调查研究

Study and analysis of the state of rare disease research in Henan Province

目的初步了解河南省罕见疾病的专家认知及病种分布现况。方法以河南省各地市29家三级医院和市级妇幼保健院为研究对象,通过对从事与罕见疾病相关科室的391名专家进行现况调查,利用统计分析方法了解各位专家对罕见疾病的认知情况,并统计2003-2013年所接触的罕见疾病种类和数量。结果共统计241种罕见疾病3 316例。相关专家对罕见疾病认知缺乏,其中13(3.32%)名医生公开发表罕见疾病相关论文;9(2.30%)名医生曾经参与罕见过疾病相关课题。结论本研究初步揭示了河南省庞大罕见疾病群体的客观存在,探索了河南省各系统罕见疾病的客观分布及存在,开展进一步的河南省罕见疾病流行状况调查势在必行。

Objective To study the state of rare disease research and survey doctors in Henan Province regarding their levels of awareness of rare diseases. Methods Types of rare diseases and numbers of cases were tallied and their geographical distribution over the decades was analyzed. 391 doctors in tertiary hospitals and maternity and child care hospitals were surveyed by questionnaires. Data were descriptively analyzed and a picture of disease distribution was created. Results This study yielded 3 316 cases of 241 different types of rare diseases. The survey found that doctors lacked awareness of research on rare diseases. An authoritative and information-rich platform for rare disease research was urgently needed. Conclusion Key steps are to study epidemiological and statistical techniques and then obtain available data to provide a basis for the definition and regulation of rare diseases in China.